This is a sad story. Perhaps it is two sad stories--stories that begin with the loss of two boys. But it is also a hopeful story. It is a loving story. And, I share it as a reminder of why TCSF prioritizes bringing our SCN8A families together at our Annual Gathering: We are not here for our individual experiences alone, because we are a community that has decided to love, to share, to mourn, and to fight...together.
-Hillary Savoie, PhD
Founder and Director, The Cute Syndrome Foundation
A little over two years ago, I used my opening remarks at the 3rd Annual SCN8A Clinician, Researcher, and Family Gathering in Washington DC to talk about a little boy named Bruno. Bruno's father, Roland, was a member of our SCN8A Support Group on Facebook, and I had asked his permission to talk about Bruno at the event because I just couldn't stop thinking about him. Bruno was a little boy whose story, as his father says, appeared not long before to be a positive example of life with SCN8A--Bruno was developing well, he was medically stable, and he was so very happy. And then, one night, in July 2017, the unthinkable happened: Bruno died in his sleep.
He would have turned seven in a few short weeks.
As is, unfortunately, the reality in our SCN8A community, Bruno's death wasn't the only loss we suffered that year, or even that month. At that same Gathering in DC, we heard via a pre-recorded video from another family who lost their son with SCN8A, Will. Will also died in July, as he slept.
Will was also a sweet, happy seven-year-old boy. In their video Will's family talked about Will and about SUDEP (Sudden Unexplained Death in Epilepsy). I can still clearly remember looking at Will's mother, Liz, as she spoke and wondering if I would have been brave enough to share in this way, were I in her shoes.
It never occurred to me that two years later, in Baltimore, I'd have the chance to wrap my arms around both Liz, in from California, and Roland, traveling from Germany, for the first time--and, together with the SCN8A community, help them mourn their sons, each in their own way.
But this year at our Fifth Annual Clinician, Researcher, and Family Gathering, that is exactly what happened.
As the recipient of one of our Mandy Harris Memorial Travel Grants, Roland was invited to speak at our Friday evening reception. He stood up to share some words about Bruno's life--and brought the entire room along on a journey with him. When Roland began speaking, many of us still had tears in our eyes--because the memorial moments for all of our SCN8A Angels directly preceded Roland's talk. However, listening to Roland talk about Bruno, there was a startling amount of joy to be had between tears.
What Roland had to say about his son, which I include in its full form below, took ahold of my heart and the hearts of everyone else in the room. As Roland spoke, I sat next to Will's mom, Liz. I held on to her, as we cried, but, also, I found myself unable to stop smiling at the way in which Roland's words managed to draw a picture of his son before our eyes...at how, in remembering him to us in that room, Roland was allowing us to help keep a part of Bruno alive.
Toward the end of his speech Roland said something that has been playing in my head ever since:
I feel I can say this quite safely, [Bruno] really had a fantastic life. The fact that seven years, or even a little less than seven years, is way too short – that’s not his problem, it’s our problem. We have to deal with it.
That's not his problem, it's our problem. We have to deal with it.
I realized only later, why this spoke to me so deeply. It is because it is precisely right. We have to deal with it. It is our problem.
And this is exactly why TCSF exists. It is exactly why that event continues to exist, and it is exactly the reason those of us in that room where there--because seven years of life is too short.
That is our problem to try to solve for our children, and in honor of our children.
Later, after the event Liz wrote to me to say thank you for the event, to explain what being there meant to her. With her permission, I include some of her words below:
I was reflecting this morning about my time here and realized how significant it was for me to grieve Will’s death surrounded specifically by other SCN8A parents. The memorial time when I was weeping and comforted by the embraces of Kenz, you, and Karen was something that I’ll carry with me forever. It just needed to happen as part of my process of grieving. So thank you, from the bottom of my heart.
We grieve together. And this is such an important thing to do. It is meaningful in so many ways that are hard to articulate, but easy to feel.
And we also get to work, together--even when it is hard, even when the work isn't to benefit our own children, but to honor them. Both Liz and Roland sat on the first meeting of the foundation's Parent Advisory Board to help guide us as a foundation in how to address the needs of parents on a host of issues. And their insights included ways to provide support to bereaved parents, to develop monitors that work better, to help de-stigmatize end-of-life discussions, as well as helping keep the memory alive of Bruno, Will, and all of the children we've lost.
This is our work, our grief. Our problem.
Roland Waegner's Speech at the 2019 TCSF Annual Gathering
First of all, I’d like to thank Karen and Hillary for setting us up so nicely with the
Angels slideshow, to make sure we’re all extra emotional, but that’s just the
way it is.
First of all, I’m really happy and grateful and excited to be here and meet all of
you, in person as opposed to 3 by 5 centimeter Facebook profile picture. And
before I continue I’d like to warn you or request that you forgive me, I’m guaranteed to choke up at some point, have to catch my breath, wipe my eyes, and all the rest of it, just so you’re ready. This is going to happen, it has happened already.
OK, I’m just going to give you a quick run-down of what many of you probably
know, but many probably do not know. Bruno’s story, I’ll keep it short and
sweet. Sweet is a good connection.
We only got the diagnosis “SCN8A” in January or February 2015, after we’d
been trying to track down another suspect. As it turned out, the other suspect
was innocent. Something showed up on an MRI scan, which then disappeared,
but the seizures didn’t disappear, so we knew we were on the wrong track. As
it turned out, the medication he’d been given anyway happened to be a
sodium channel blocker, so we got lucky, in a sense. Then I discovered this
group, and I thought, “Yeah, one of these days I’ll, you know, connect up and
share my story,or Bruno’s story, a bit more to the point, share Bruno’s
story as a positive, optimistic outlook, because I’d seen so many stories and
family tragedies of difficult lives. I thought, maybe a spot of positivity wouldn’t
hurt, because Bruno actually was at the extremely healthy end of the
spectrum: he was walking, he was talking, he had the odd ataxia and he wasn’t
completely coherent. But he was doing well, he was steadily progressing, there
was no downturn just yet, so I thought maybe this would be a good story to
add to the collection, to the anthology.
And then, as it happens, before I got down to actually doing it, SUDEP came first. So, then I had no choice but to change the ending of the story. It was going to be a Happy-End story, but now it’s just an “End” story, with plenty of “happy” taking place before the end. He
was one of the happiest people I’ve met, and he loved sharing his happiness
with everyone. If he walked in here now, you’d all be grinning up to your ears.
I’ve been made to feel very, very welcome by this group when I decided to join and to participate and to get to know at least the thumbnails of everybody. And I always repeat myself, it’s just so nice to really meet you all in the flesh and 3D and in life-size, as opposed to, you know, “click”.
His neurologist, who took care of Bruno from the very beginning, which is from when it all started, age six or seven weeks, right up until the funeral, he was a great guy, very very involved, and I think he went to extra lengths to try and figure out a solution, maybe the cause, but mainly a solution, in the first step, and he said something to us which was very memorable. He was at the funeral and he came up to us and his eyes were all puffed up, he’d been crying like a baby, and this was a full-on professional, he came up to us with these very puffy eyes and said, “I’d like to have a meeting with you as soon as possible, this has been much on my mind ever since I got the terrible news.” And in this meeting, he said to us: “One question has been bothering me, and I’m sure it’s been bothering you too: Could this have been prevented?” And he said, there’s a short answer and a long answer. The short answer is “Yes.” The long answer is “Yes. BUT.” And then came this excessively long “but”. Essentially, what he said is, we could have probably got all the various devices and gadgets and mattresses and wristbands and oxy-pulse-oxy… everything! But then, what would have changed? Well, something crucial would have changed: Bruno would have been patient first and child second. And the way we did it, without all this high-tech, he managed to be child first by a long distance […] Then he said, which was even more impressive, “if it had been my son, I would have done it exactly the same.” And that’s a very comforting thought.
Now, Bruno was doing really, really well with the meds that he was taking and with the team surrounding him, and I don’t mean just the family, but all his various therapists and his pre-school team, and just everybody, but death, especially SUDEP has this nasty habit of just creeping up on you and coming out of nowhere. So, by making sure, […] or at least by trying to make sure that every day was the best day of his life, I feel I can say this quite safely, he really had a fantastic life. The fact that seven years, or even a little less than seven years is way too short – that’s not his problem, it’s our problem. We have to deal with it. From his perspective, he was happy every single day of his life, and that’s something we can all aspire to. I hope I can say that, you know, when my time comes, that I was happy every single day of my life. I doubt it.
So basically, all of you here are a big group of heroes: parents, clinicians, researchers, everybody who is involved in making sure that everybody’s life can be the best day… […] that everybody here can say that every day is the best day of everybody’s life. Keep it up.
The togetherness… All of us together, never give up hope, every day, start the next day, keep on hoping, and if need be even further. It works, you’re doing great. Thank you very much.
When we heard about The Cute Syndrome Foundation's Annual Gathering, I thought, oh, that would be so neat, but there’s no way we could make that happen. Then we realized it was only 2 hours away, and my husband insisted we try to make it work if we could. I went in, not knowing what to expect. I felt unease and uncertainty, but, in hindsight, it was a great decision.
My time at the Gathering it left me wanting to create a guide for other SCN8A caregivers for when they attend their first Gathering. However, since my experience is unique, I thought I would reach out to my new-found friends, to inquire what other first-time Gathering parents experience. Here is what I learned:
1. There are both joys and challenges to bringing your kiddos along. We brought our kiddos along (our typically developing daughter, and Shirley Rose, our SCN8A warrior). We also had my parents along to help us care for the girls so we could focus when we needed to. I think we got the best of both worlds. But not everyone has that luxury. So know that whatever you choose, it will be GREAT. It’s helpful to able to focus and go to the late-night outings without worrying about meds or bedtime. Still, there is a joy in having these kiddos all together. One momma, Nora Lyons, said, “Blake got so much out of meeting people who ‘get it’ right off the bat.”
2. If things go wrong, you are surrounded by people who understand and can help. Traveling with a medically complex child is intimidating. It’s one of the things that held me back from wanting to go. But I found comfort in knowing that not only was I surrounded by other parents who also live this life every single day, but I’m surrounded by clinicians who can help if something goes wrong. Jenny McGill Weaver, a momma at the event, shares her experience “…my youngest had a seizure during one of the seminars. My husband was outside taking a work phone call, so I hurried up and got her emergency meds out of my bag, and my husband pushed her stroller down the hallway to the bathroom, not realizing I was being followed. When I got into the bathroom, there were two other ladies from the conference who came into the bathroom to ask if I needed help and just stood there with me while I ministered meds and checked on her and got her levels back up. There was no judgment. There was no looking at me strangely. It was all very routine for us. To have that support and someone there to say, “It’s okay, we’ve got your back. It’s okay to be scared. It’s okay to run down the hallway.” Just knowing we have that support was a blessing to me that day.”
3. You will be up late! One of the things we had to think strategically about was the fact that many of the sessions were after 6pm. So if you plan to bring your child(ren) along, account for bedtimes, and tag team with your spouse, or bring a grandparent along. And drink some coffee. We lucked out by staying in the same time zone, but others were coming from all over the world and were exhausted.
4. You don’t have to remember everything. At first, I had this sense of panic. I felt like I should be writing everything down so I could remember all the details. But, the volunteers at TCSF are fantastic and make sure to record everything. They make it available to the families after the event, so we have the opportunity to listen to it again later. So don’t fret. You can go back and listen again.
5. You belong. Let me say that again: You belong. I had some serious imposter syndrome when I first arrived. I felt out of place. I didn’t know anyone. I have a reasonably introverted temperament, so meeting new people is quite intimidating to me. But within an hour, it hit me; these people get it. They understand the struggles, they understand the joys. They GET IT. And never have I felt so known in this journey with Shirley as I did hearing the struggles and celebrations of other SCN8A families. Some of you may feel this sense of belonging right away, but for others like me, it may take you a while to warm up. But regardless of your temperament, you will know that you belong before the weekend is over.
6. You will be overwhelmed at moments. And it’s okay! There is a lot of scientific talks, and unless you have a framework for science, some of it will be very confusing. Take some time to talk with your neurologist before coming about the science of the variant SCN8A, read up on the way sodium channels work, or just come ready to learn and ask lots of questions. Depending on your personality, you may like to feel prepared, or you may want to come in open-minded and learn as you go. Just know that it’s okay if you don’t fully understand some things. One thing that is helpful to know is your child’s specific variant.
7. Some of the best moments won’t happen during a session. Roland Waegner says it well when he says, “Bring spare time. And if you’re bringing your kids, make sure there’s someone else with you to look after them, because the socializing in between events or at the bar is where I felt the real magic happened. Parents (veterans and first-timers), clinicians, pharma people are all completely eye-level peers once removed from the lecturer-audience context, and you can feel the tremendous energy and dedication on everybody’s part.” Some of the best conversations and connections we had were not during a session but in the in-between times. Talking with families who have been walking this journey for years, hearing how far things have come, asking how they cope with some of the struggles, it was all so encouraging to my soul.
8. You will leave part of a beautiful community. During this event, you will realize that you have never felt so understood in your journey with your child. During one of the sessions, a clinician asked how many parents felt their kids were sensitive to sounds or easily startled, nearly every hand went up. He asked how many parents felt their child had a high threshold for pain, again many hands went up. These are things that the researchers can’t explain with science(yet), but we parents are living it firsthand. These parents, clinicians, and researchers are a powerful community. A community who is a driving force to gather more understanding and better treatment, so that we can give these kids their best shot, despite a really crappy diagnosis. You may start the gathering uneasy, but you will leave feeling part of a family.
Written by Faith Titus, SCN8A Mom and first-time TCSF Gathering Attendee
Help us continue to support the SCN8A community through events like this Gathering.
A week ago today the SCN8A community started arriving in Baltimore, Maryland in order to take part in the fifth annual Cute Syndrome Foundation SCN8A Clinician, Researcher, and Family Gathering. This event, which is held over two days every year in conjunction with the American Epilepsy Society meeting, began as a way to bring together all of the stakeholders within the SCN8A community, including the families. We hold this event because we believe in the power of SCN8A families to not only observing, but actively participating in driving the changes in medical science to help our children. This year, with 265 people registered for this event, it was, by far, our largest Gathering to date.
Bringing Together The Entire SCN8A Community
Our main event occurs on Friday evening, during which time we hear from medical professionals on the current state of expert care and scientific discovery in SCN8A. The evening also includes stories from families on the issues around life with SCN8A in which they are experts. One of the most remarkable things about this meeting is that families have always brought their children...certainly, in many cases, out of necessity. This year, our children settled in the back of the room, playing on the floor, calling out, the sounds of their toys echoing through the room on occasion.
It is important that they be there, because they, too, are there to speak for their community, in whatever ways they can. And the impact of their presence is felt, because year after year we hear from the researchers about the impact that meeting the families has on their work—helping them bring life to their bench research.
“I sat down and looked around at a room filled with an array of different kinds of people- moms, dads, grandparents, SCN8A children, volunteers, clinicians and researchers. Some of these people are complete strangers, as I do not know them personally, but the sense of community was absolutely palpable. We truly are #StrongerTogether." Kacie Craig, TCSF volunteer
A Focus on Full Family Participation
At the two-day event, TCSF also offers a series of learning sessions for the families in attendance. Historically, these sessions revolve around practical issues pertaining to life with SCN8A. However, since TCSF is so invested in creating lines of communication between the medical professionals and the family community, last year we began an SCN8A Science Education session--led by a neuroscience research assistant . This year we held it in the hours prior to our main event, in order to help the families with a pre-conference crash course on what they needed to know to follow along during the medical professional presentations.
In 70 person group of families we learned about action potentials and neuronal excitability--and then had the opportunity to ask any questions we might have. The level of discussion was really impressive. And all of that 101 session, together with a number of other resources from the event--including a key word finder, presentation slides, information on the speakers, and, soon, videos of the presentations--are all available on our family-portal.
For some families Day 2 began bright and early with one-on-one meetings with Michael Hammer PhD (University of Arizona) and Dr. Katrine Johannesen (Danish Epilepsy Centre). That morning we all gathered for a family photo sporting our TCSF shirts and some in our SCN8A leggings. The sea of purple was captured beautifully thanks to Philadelphia-based photographer Ryan Collerd, who has documented our SCN8A community since our first Gathering in Philadelphia in 2015.
Following the photo, families gathered into a more intimate space for family-focused sessions. We offered a session on Zogenix-supported research regarding the effects of living with a sibling with special needs, which was followed by a siblings-only breakout session. Tracy Dixon-Salazar, from the Lennox-Gastaut Syndrome Foundation, spoke about the effects of Caregiver Stress. And SCN8A parents Kacie Craig, Shelley Frappier, and Hillary Savoie spoke about Augmentative and Alternative Communication devices. TCSF also piloted a patient-centered discussion session, based on a similar method used by the Dravet Syndrome Foundation at their family meetings, in order to document caregiver priorities and feedback on the services they need from TCSF
“The siblings discussion was new this year. I was excited and appreciated this talk and my son felt special having something this weekend that was just for him. Although SCN8A is the reason we are connected I loved meeting people from all over the world! The conversations and encounters with everyone we met truly made this weekend so special to me and my family. Just wish we had more time.” Jen Costello TCSF Volunteer
A family-fun dinner outing rounded out the end of our event. Every detail was planned perfectly for our night out on the town by TCSF leadership team member and volunteer Karen Varner. We enjoyed a brisk walk in downtown Baltimore and gathered at a local restaurant. Our meals were pre-ordered in advance to expedite eating in such a large group. Music and laughter filled the air while we drank and enjoyed a meal together. It was a nice time to relax, unwind and chat with one another.
Why We Do This
Families come to this gathering for a variety of reasons whether it is to educate themselves, connect with others, heal or gain support. Parents of children with SCN8A find themselves often feeling isolated and afraid. The annual TCSF gathering reminds us that we are not alone, in fact, there are hundreds of medical professionals fighting for our children. At the Gathering we are able to be in an environment where not only do parents have an opportunity to learn what research is taking place and what pharmaceuticals are on the horizon, but to do so while sitting next to the people completing the work! Parents are not only included in conversations, but are encouraged to ask questions and be involved.
“This was my third time attending and I’ve realized that my soul needs this event to survive the year. For 48 hours, I’m surrounded by parents that truly understand my life, which made it even harder to leave them after the family dinner Saturday evening- many tears were shed. On my way back home, I stepped off the airplane and immediately felt the weight of the world fall back onto my shoulders as the event was now over, but I reminded myself that I’m not alone and we will be together again.” Kacie Craig, TCSF volunteer
Such an event would not be possible without the extraordinary volunteers who poured many dedicated hours into this event and the 2019 generous event sponsors including our Title Sponsor: Xenon Pharmaceuticals Inc. as well as Praxis Precision Medicines, Greenwich Biosciences, Zogenix, Gene Dx. This year we also added our first Gold-level Charity Sponsory: Clayton’s Crusade. Clayton’s Crusade is organized by two TCSF volunteers, Megan and Jacob Guard. Their son, Clayton, is a SCN8A warrior and together they raised enough funds to be a sponsor for this year’s gathering - what an accomplishment!
As we reflected after the event, it was summed up best by TCSF volunteer, Roland Waegner, “Only 51 weeks left till the Seattle gathering! Can’t wait!”
Written by Kacie Craig and Jennifer Lano Costello. Stay tuned for more posts about experiences at the Fifth Annual TCSF SCN8A Gathering!
Help us continue to support the SCN8A community through events like this Gathering.